Cause of ALS is found, Northwestern team says

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Discussion Overview

The discussion revolves around a claim made by researchers at Northwestern University regarding a common cause of amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease. Participants explore the implications of this claim, the genetic factors associated with ALS, and the historical context of ALS research.

Discussion Character

  • Exploratory, Technical explanation, Debate/contested

Main Points Raised

  • Some participants highlight that approximately 5-10% of ALS cases are inherited, with ongoing research into specific mutations responsible for familial ALS.
  • It is noted that common genetic variants, such as mutations in the superoxide dismutase enzyme and the C9orf72 gene, are associated with ALS, but the mechanisms by which these mutations contribute to the disease remain poorly understood.
  • A participant references a 2011 paper identifying mutations in the UBQLN2 gene as a cause of familial ALS, suggesting that understanding these mutations could provide insights into treatment.
  • There is a recognition that ALS, like cancer, is a complex disease with potentially multiple causes, indicating that treatment may need to be tailored to individual cases.
  • Some participants express skepticism about the relevance of the linked article, noting its age and questioning its significance in the context of ongoing ALS research.
  • One participant emphasizes that any news regarding ALS, despite its incurable nature, should not be viewed negatively given the long history of research into the disease.

Areas of Agreement / Disagreement

Participants express a range of views on the implications of the Northwestern research claim, with some focusing on genetic factors and others questioning the relevance of the information presented. There is no consensus on the significance of the findings or their potential impact on treatment.

Contextual Notes

The discussion reflects a variety of perspectives on the complexity of ALS, the significance of genetic research, and the historical context of ALS studies. Limitations include the lack of clarity on how specific mutations lead to ALS and the implications of the age of the referenced article.

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Researchers at Northwestern University say they have discovered a common cause behind the mysterious and deadly affliction of amyotrophic lateral sclerosis, or Lou Gehrig's disease, that could open the door to an effective treatment.

Dr. Teepu Siddique, a neuroscientist with Northwestern's Feinberg School of Medicine whose pioneering work on ALS over more than a quarter-century fueled the research team's work, said the key to the breakthrough is the discovery of an underlying disease process for all types of ALS.
http://www.chicagotribune.com/lifes...hwestern-als-breakthrough-20110822-story.html
 
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~5-10% of ALS cases are inherited from one's parents, and a lot of effort has gone into tracking down what mutations are responsible for these familial cases of ALS. Wikipedia has a list of some of the mutations associated with various forms of familial ALS. Common genetic variants associated with ALS include a mutation in superoxide dismutatse (an enzyme that elimnates free radicals), which accounts for ~ 2% of ALS cases overall, and mutations in a region of chromosome 9 of unknown function called C9orf72, which accounts for ~6% of ALS cases among white Europeans. How mutations in these and other genes lead to ALS is not currently very well understood and is an active area of research (for example, Science recently published a pair of papers examining how mutations in C9orf72 might contribute to neurodegeneration). The news article Greg cites comes from a 2011 paper in Nature that identifies mutations of the gene UBQLN2 as the cause of familial ALS in the family they studied.

While familial ALS account for only a very small amount of those with the disease, these studies are very important because they point out particular biochemical pathways in the brain that, when disrupted, lead to ALS. Figuring out how these mutations lead to the development of ALS could potentially give insight into how one might go about treating the disease. However, like cancer, ALS and other neurodegenerative diseases seem like very complex diseases that can have multiple causes, whose treatment may vary for case to case.
 
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It should be noted that the Chicago Tribune article linked to in the OP is more than 3 years old.
 
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SteamKing said:
It should be noted that the Chicago Tribune article linked to in the OP is more than 3 years old.
Yikes how did I miss that! Must not have been that important.
 
Well, ALS has been researched for almost 75 years now, so any news about an incurable disease is not necessarily bad news.
 

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